Pure hereditary spastic paraplegias - The story becomes complicated

[1] CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients [J]. HUMAN MOLECULAR GENETICS, 1998, 7 (11) : 1779 - 1786

[2] Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 (03) : 275 - 282

[3] Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease [J]. CELL, 1998, 93 (06) : 973 - 983

[4] Casaubon LK, 1996, AM J HUM GENET, V58, P28

[5] A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (01) : 135 - 139

[6] Hereditary spastic paraplegia: Advances in genetic research [J]. NEUROLOGY, 1996, 46 (06) : 1507 - 1514

[7] Genotype-phenotype correlation in L1 associated diseases [J]. JOURNAL OF MEDICAL GENETICS, 1998, 35 (05) : 399 - 404

[8] Griffiths I, 1998, MICROSC RES TECHNIQ, V41, P344, DOI 10.1002/(SICI)1097-0029(19980601)41:5<344::AID-JEMT2>3.0.CO

[9] 2-Q

[10] Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q [J]. NEUROLOGY, 1999, 53 (01) : 44 - 50

[1] CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients [J]. HUMAN MOLECULAR GENETICS, 1998, 7 (11) : 1779 - 1786

[2] Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 (03) : 275 - 282

[3] Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease [J]. CELL, 1998, 93 (06) : 973 - 983

[4] Casaubon LK, 1996, AM J HUM GENET, V58, P28

[5] A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (01) : 135 - 139

[6] Hereditary spastic paraplegia: Advances in genetic research [J]. NEUROLOGY, 1996, 46 (06) : 1507 - 1514

[7] Genotype-phenotype correlation in L1 associated diseases [J]. JOURNAL OF MEDICAL GENETICS, 1998, 35 (05) : 399 - 404

[8] Griffiths I, 1998, MICROSC RES TECHNIQ, V41, P344, DOI 10.1002/(SICI)1097-0029(19980601)41:5<344::AID-JEMT2>3.0.CO

[9] 2-Q

[10] Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q [J]. NEUROLOGY, 1999, 53 (01) : 44 - 50